Canonical Allele Identifier: CA2089982356

Gene: RB1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364896_48364897delinsGA , CM000675.2:g.48364896_48364897delinsGA	GRCh38
NC_000013.10:g.48939032_48939033delinsGA , CM000675.1:g.48939032_48939033delinsGA	GRCh37
NC_000013.9:g.47837033_47837034delinsGA	NCBI36
NG_009009.1:g.66150_66151delinsGA , LRG_517:g.66150_66151delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.864_865delinsGA MANE Select	ENSP00000267163.4:p.Val288=
ENST00000650461.1:c.864_865delinsGA	ENSP00000497193.1:p.Val288=
ENST00000267163.4:c.864_865delinsGA	ENSP00000267163.4:p.Val288=
NM_000321.2:c.864_865delinsGA , LRG_517t1:c.864_865delinsGA	NP_000312.2:p.Val288=
XM_011535171.1:c.603_604delinsGA	XP_011533473.1:p.Val201=
XM_011535171.2:c.603_604delinsGA	XP_011533473.1:p.Val201=
NM_000321.3:c.864_865delinsGA MANE Select	NP_000312.2:p.Val288=